Canonical Allele Identifier: CA2186742347

Gene: HEXA

Linked Data

• dbSNP Id: rs2088572095

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343450G>A , CM000677.2:g.72343450G>A	GRCh38
NC_000015.9:g.72635791G>A , CM000677.1:g.72635791G>A	GRCh37
NC_000015.8:g.70422845G>A	NCBI36
NG_009017.1:g.37730C>T
NG_009017.2:g.37730C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683243.1:c.*1370C>T	ENSP00000507042.1:n.*1370C>T
ENST00000684263.1:c.*1841C>T	ENSP00000508369.1:n.*1841C>T
ENST00000268097.10:c.*627C>T MANE Select	ENSP00000268097.6:n.*627C>T
ENST00000268097.9:c.*627C>T	ENSP00000268097.5:n.*627C>T
ENST00000379915.4:c.608+1996C>T	ENSP00000478716.1:n.608+1996C>T
NM_000520.4:c.*627C>T	NP_000511.2:n.*627C>T
NM_000520.5:c.*627C>T	NP_000511.2:n.*627C>T
NM_001318825.1:c.*627C>T	NP_001305754.1:n.*627C>T
NM_000520.6:c.*627C>T MANE Select	NP_000511.2:n.*627C>T
NM_001318825.2:c.*627C>T	NP_001305754.1:n.*627C>T